HELP ME PLEASE

[gwoe]

hello i really need some help with this.
firstly does anybody no of two conditions found in humans which are cause by chromosomal mutation?? or any good websites that would help?

and secondly

with the condition cystic fibrosis where does the mutation occur???

thankyou!!

[f22]

your firsy Q:for instance,somebody has six fingers and others haven’t. this is caused by chromosomal mutation
the second Q:may google knows ……

[becky7787730]

search for omim in google-provides information about all genetic diseases

[canalon]

For cistic fibrosis, you might want to look for "cftr". There are many mutations in this gene.

[helpneeded]

you might want to try studying and then doing the assignment.

[ArtificialAngel]

1st question:

when theres a chrom. mut. depending on what part of the chrom. the mutation veries. since how chroms. contain the coding of like everything if theres a mution in the chrom. then something in your body will be effected. like example. my lit. brother has SMA (spinal muscular atrophy) and the mutation is located in chrom. 5 somewhere.

2nd question:
never heard of it before.

hope that helps in some way. ^^

[Prachi]

1st question-

Are you sure it says, MUTATION? coz, few are known of this type. Generally, the conditions are due to cromosomal non-dysjunction. some examples of which are-Kline Felter Syndrone; Jacob Syndrome etc.

2nd question-

It occurs when a child receives 2 copies of the same chromosome no 7 with a mutant CF gene from her carrier mother and none from the father. It was first discovered in 1988 by Spence.

Hope that is was of some help…

[Prachi]

Me the differnce between-local hormones; para hormones and tissue hormones…

according to me, para and tissue hormones is the same thing and local is different. but I cant find any substantial information on google…so pleeeeeeeeeease help…

[Revenged]

The most common chromosomal condition caused by non-disjunction in meiosis I is Down’s syndrome (trisomy 21)…

[Prachi]

Yup! the most common one is Down’s syndrome! and I have posted MY question here by mistake…so plz if some1 knows the answer, then plzzzz help me!

[ewallacestudent1]

Prostaglandins are refered to as tissue hormones

[jwalin]

coming to the original post for the question 2. just to add on to the ansswers given
has anyone wondered how does the mutation cause such a serious diseases?
what happens is that the mutation leads top a changed CFTR protien. and as a result chloride ions cant be moved. in all tracts we have mucus. the cells lining the tracts usually secrete chloride ions into it and as a result water moves out via osmosis. but this doesnt happen in cystic fibrosis. and as a result there is thick mucus that cant be moved out by the cilia

[Author]

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